Search Ontology:
Human Disease

autosomal recessive osteopetrosis 4

Term ID
DOID:0110944
Synonyms
  • infantile malignant osteopetrosis 2
  • OPTB4
Definition
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/11207362
References
Ontology
Human Disease   ( DOID:0110944 )
Relationships
is a type of
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Genes Involved
Zebrafish Models